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Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. Introduction Primary immunodeficiencies (PIDs) are a phenotypically and genetically heterogeneous group of more than 300 monogenic inherited disorders resulting in immune defects that pred...
Source: Frontiers in Immunology - April 10, 2019 Category: Allergy & Immunology Source Type: research

Expanding Research Capacity in Sub-Saharan Africa Through Informatics, Bioinformatics, and Data Science Training Programs in Mali
Conclusion Bioinformatics and data science training programs in developing countries necessitate incremental and collaborative strategies for their feasible and sustainable development. The progress described here covered decades of collaborative efforts centered on training and research on computationally intensive topics. These efforts laid the groundwork and platforms conducive for hosting a bioinformatics and data science training program in Mali. Training programs are perhaps best facilitated through Africa’s university systems as they are perhaps best positioned to maintain core resources during lapses in sho...
Source: Frontiers in Genetics - April 11, 2019 Category: Genetics & Stem Cells Source Type: research

Empowering patients with the right data at the right time
We ’ve all read about the potential for data to transform healthcare by enabling patients to better understand their conditions and engage better in their treatment.  Now a handful of pioneers are starting to demonstrate the potential and to justify some of the hype. Some rapid improvements in outcomes and adherence point the way to a future in which agile pharma teams routinely work with ever more real-time, real-world data to rapidly and iteratively improve patient insights and outcomes. In the era in which payments will increasingly be tied to results, such innovations should be of huge value, and will have the add...
Source: EyeForPharma - October 17, 2019 Category: Pharmaceuticals Authors: Andrew Stone Source Type: news

Randomized Trial of Interventions to Improve Childhood Asthma in Homes with Wood-burning Stoves
Conclusions: Among children with asthma and chronic exposure to woodsmoke, an air-filter intervention that improved indoor air quality did not affect quality-of-life measures. Intent-to-treat analysis did show an improvement in the secondary measure of dPFV. Trial registration: ClincialTrials.gov NCT00807183. https://doi.org/10.1289/EHP849 Received: 21 July 2016 Revised: 13 June 2017 Accepted: 16 June 2017 Published: 13 September 2017 Address correspondence to C.W. Noonan, School of Public and Community Health Sciences, 32 Campus Dr., University of Montana, Missoula, MT 59812 USA. Telephone: (406) 243-4957; Fax: (406...
Source: EHP Research - September 13, 2017 Category: Environmental Health Authors: Daniil Lyalko Tags: Research Source Type: research

The Biggest Medical Stories You May Have Missed In 2015
SPECIAL FROM Next Avenue By Craig Bowron As we head into the New Year, let’s take a look back and see what lessons we should have learned from medical science in 2015. The New England Journal of Medicine’s publication Journal Watch provides physicians and other health care providers with expert analysis of the most recent medical research. Below is a brief synopsis of what the Journal Watch editors felt were the most important stories in general medicine for the year 2015. While you likely heard about a couple, others probably escaped your radar. Getting Aggressive with Strokes We’re familiar with the id...
Source: Science - The Huffington Post - January 15, 2016 Category: Science Source Type: news

Lessons about food anaphylaxis.
Abstract Exercise-induced anaphylaxis (EIA) and its subtype food-dependent (FD)-EIA are uncommon and easily missed forms of physical allergy. The latter is triggered by exercise following the ingestion of specific food products. Treatment is identical to that for IgE-mediated allergic reactions. The disease is potentially fatal. In this case, 30-year-old woman was seen in the allergy clinic at the request of her general practitioner. She reported an episode when she had gone to a local park to exercise after dinner. Shortly thereafter, she collapsed with rash, lip swelling, and breathing difficulties. Upon admissi...
Source: Clinical Medicine - December 1, 2014 Category: Journals (General) Authors: Medveczky T Tags: Clin Med Source Type: research

Lessons from Toxicology: Developing a 21st-Century Paradigm for Medical Research
Conclusions Our proposed new research paradigm, adapted from 21st-century toxicology, would involve the following aspects: Developing a big picture of human diseases, integrating extrinsic and intrinsic causes, and linking environmental sciences with medical research using systems biology. Introducing a disease AOP concept, analogous to toxicity AOPs, with the intention of providing a unified framework for describing relevant pathophysiology pathways and networks across multiple biological levels. Creating a strong focus on advanced human-specific research (in vitro, ex vivo, in vivo, and in silico) in place of empirical,...
Source: EHP Research - November 2, 2015 Category: Environmental Health Authors: Web Admin Tags: Brief Communication November 2015 Source Type: research

What It's Like to Be Allergic to Water
(Photo-Illustration: Photos: Corbis) By Alexa Tsoulis-Reay In 1963, a 15-year-old girl presented herself to a pair of dermatologists in Pennsylvania complaining that she'd broken out in angry, red lesions after a session of waterskiing. That first mysterious outbreak became a trend: Blotchy, itchy hives would pop up all over her limbs every time she took a bath, went swimming, or perspired heavily. The doctors conducted a series of tests to rule out obvious possible triggers like cold and, using a hand towel soaked in distilled water, identified a condition called aquagenic urticaria: Sufferers are so sensitive to pure w...
Source: Science - The Huffington Post - November 3, 2015 Category: Science Source Type: news

Preventing Medication Errors: Lessons From a Patient
A Nurse Aide, an Emergency Room Clerk, and a Patient I have great appreciation for doctors and nurses, hospitals, and patients. In high school I worked as a nurse aide in a convalescent home. I fed, dressed, and showered elderly patients, many of them immobile. I shaved gentlemen's facial stubble and polished ladies' fingernails. In college and in graduate school, I worked as an emergency room clerk. I witnessed a lot, including amazing doctors and nurses caring for patients and saving lives. I have also been a patient. First, when I had an appendectomy at age eight and then when I gave natural childbirth twice. All were...
Source: Healthy Living - The Huffington Post - May 2, 2016 Category: Consumer Health News Source Type: news

Children ’s Environmental Health: Homes of Influence
This article provides a very broad overview of some of the key players that influence the environmental contributions to childhood asthma. It should suggest to the reader that with regard to CEH, the players and issues are many and complex. The need for a comprehensive stakeholder management tool (map) that identifies the stakeholders in CEH, their respective interests and roles, and how they are interconnected, is warranted for effective systems change efforts. It would inform future initiatives borne of the recommendations identified by “A Blueprint for Protecting Children’s Environmental Health: An Urgent Call to Ac...
Source: EHP Research - December 1, 2016 Category: Environmental Health Authors: Web Admin Tags: Perspectives Brief Communications Children's Health December 2016 Source Type: research

Molecules, Vol. 24, Pages 1142: Advances in Molecular Mechanisms of Wheat Allergenicity in Animal Models: A Comprehensive Review
enugopal Gangur The prevalence of wheat allergy has reached significant levels in many countries. Therefore, wheat is a major global food safety and public health issue. Animal models serve as critical tools to advance the understanding of the mechanisms of wheat allergenicity to develop preventive and control methods. A comprehensive review on the molecular mechanisms of wheat allergenicity using animal models is unavailable at present. There were two major objectives of this study: To identify the lessons that animal models have taught us regarding the molecular mechanisms of wheat allergenicity and to identify the s...
Source: Molecules - March 21, 2019 Category: Chemistry Authors: Yining Jin Harini G. Acharya Devansh Acharya Rick Jorgensen Haoran Gao James Secord Perry K. W. Ng Venugopal Gangur Tags: Review Source Type: research

Functional Antibody Responses Following Allogeneic Stem Cell Transplantation for TP53 Mutant pre-B-ALL in a Patient With X-Linked Agammaglobulinemia
Discussion This case demonstrates successful cure of pre-B-ALL complicating XLA by alloSCT with restoration of B-cell development and functional antibody response. We are aware of only one previous case of pre-B-ALL in an XLA patient (21), which suggests that human BTK deficiency in itself does not predispose to pre-B-ALL. However, there are data to suggest that BTK may act as a tumor suppressor, and BTK deficiency may predispose to tumor development following a “second hit.” Mice with a genetic deficiency in Slp65, a gene encoding an adaptor protein that functions together with BTK, have a block in proge...
Source: Frontiers in Immunology - April 25, 2019 Category: Allergy & Immunology Source Type: research

Governing patient safety: lessons learned from a mixed methods evaluation of implementing a ward-level medication safety scorecard in two English NHS hospitals
Discussion Presenting evidence-based performance indicators may potentially influence staff behaviour. Several practical and cultural factors may limit feedback effectiveness and should be considered when developing improvement interventions. Quality scorecards should be designed with care, attending to evidence of indicators’ effectiveness and how indicators and overall scorecard composition fit the intended audience.
Source: Quality and Safety in Health Care - January 11, 2014 Category: Health Management Authors: Ramsay, A. I. G., Turner, S., Cavell, G., Oborne, C. A., Thomas, R. E., Cookson, G., Fulop, N. J. Tags: Open access Original research Source Type: research

Scientists Show Immune System for Some With Autism Triggered by Gluten and Casein
This article is saying non-CD intestinal damage occurs in some ASD kids thus furthering the theory that a subgroup of autism is triggered by gluten. Now gluten being a trigger for some with autism is factual. Kind-of changes the whole autism is a "neurodevelopment" problem... at least for some. Link between food and behavior? Unfortunately, there was no direct correlation between intestinal permeability and an increase in antibodies; however, that just points out that intestinal damage can occur many different ways as noted in this previous research. Although every pathway of intestinal damage is not known, there is an inc...
Source: Science - The Huffington Post - August 28, 2015 Category: Science Source Type: news